Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	775
Gene name Gene Name - the full gene name approved by the HGNC.	Calcium voltage-gated channel subunit alpha1 C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CACNA1C
Synonyms (NCBI Gene) Gene synonyms aliases	CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.33
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through

Show/Hide all(47)

SNP ID	Visualize variation	Clinical significance	Consequence
rs56394008	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs79891110	G>A,T	Pathogenic, not-provided	Stop gained, coding sequence variant, intron variant, missense variant
rs80315385	G>A,C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs111606207	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs121912775	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, pathogenic	Coding sequence variant, missense variant
rs121912776	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs141633456	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs184684058	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs186741807	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs200330469	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200800133	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201258230	C>A,T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201345843	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201756421	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs367895193	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs369079645	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370576211	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372702466	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374857905	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs375534041	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs398123517	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs527741368	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs545511851	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs575583988	GAG>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, inframe deletion
rs587782933	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant
rs730880056	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs747654175	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750459136	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750835733	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs750998195	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs754527651	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs758786846	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs760888275	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs773528195	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786205745	G>A,C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs786205748	C>T	Pathogenic	Missense variant, coding sequence variant
rs786205753	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794727587	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797044881	T>C	Pathogenic	Missense variant, coding sequence variant
rs886042224	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs1057517711	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1467561684	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555672574	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555836187	A>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1555968941	G>A,C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs1568469857	C>A	Pathogenic	Missense variant, coding sequence variant
rs1569139160	C>G	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(193)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001203	hsa-miR-133a-3p	Luciferase reporter assay, Western blot	19136465
MIRT568987	hsa-miR-4270	PAR-CLIP	20371350
MIRT568986	hsa-miR-4441	PAR-CLIP	20371350
MIRT568984	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT568985	hsa-miR-4487	PAR-CLIP	20371350
MIRT568983	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT568982	hsa-miR-4505	PAR-CLIP	20371350
MIRT568981	hsa-miR-5787	PAR-CLIP	20371350
MIRT568980	hsa-miR-4300	PAR-CLIP	20371350
MIRT568979	hsa-miR-5591-5p	PAR-CLIP	20371350
MIRT568978	hsa-miR-6726-5p	PAR-CLIP	20371350
MIRT568977	hsa-miR-920	PAR-CLIP	20371350
MIRT568976	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT568975	hsa-miR-4492	PAR-CLIP	20371350
MIRT568974	hsa-miR-4498	PAR-CLIP	20371350
MIRT568972	hsa-miR-5001-5p	PAR-CLIP	20371350
MIRT568973	hsa-miR-762	PAR-CLIP	20371350
MIRT568971	hsa-miR-3175	PAR-CLIP	20371350
MIRT568970	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT568969	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT568968	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568967	hsa-miR-4489	PAR-CLIP	20371350
MIRT568966	hsa-miR-4283	PAR-CLIP	20371350
MIRT568965	hsa-miR-185-3p	PAR-CLIP	20371350
MIRT568964	hsa-miR-4425	PAR-CLIP	20371350
MIRT568963	hsa-miR-3147	PAR-CLIP	20371350
MIRT568962	hsa-miR-2110	PAR-CLIP	20371350
MIRT568961	hsa-miR-6810-5p	PAR-CLIP	20371350
MIRT568960	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT568959	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT568958	hsa-miR-6857-5p	PAR-CLIP	20371350
MIRT568957	hsa-miR-450a-2-3p	PAR-CLIP	20371350
MIRT568956	hsa-miR-6778-5p	PAR-CLIP	20371350
MIRT568955	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT444938	hsa-miR-3938	PAR-CLIP	22100165
MIRT444936	hsa-miR-4780	PAR-CLIP	22100165
MIRT444937	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT444935	hsa-miR-623	PAR-CLIP	22100165
MIRT444934	hsa-miR-204-5p	PAR-CLIP	22100165
MIRT444933	hsa-miR-211-5p	PAR-CLIP	22100165
MIRT444932	hsa-miR-4755-5p	PAR-CLIP	22100165
MIRT444931	hsa-miR-5006-3p	PAR-CLIP	22100165
MIRT732349	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27341015
MIRT732349	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27341015
MIRT568987	hsa-miR-4270	PAR-CLIP	20371350
MIRT568986	hsa-miR-4441	PAR-CLIP	20371350
MIRT568984	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT568985	hsa-miR-4487	PAR-CLIP	20371350
MIRT568983	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT568982	hsa-miR-4505	PAR-CLIP	20371350
MIRT568981	hsa-miR-5787	PAR-CLIP	20371350
MIRT568980	hsa-miR-4300	PAR-CLIP	20371350
MIRT568979	hsa-miR-5591-5p	PAR-CLIP	20371350
MIRT568978	hsa-miR-6726-5p	PAR-CLIP	20371350
MIRT568977	hsa-miR-920	PAR-CLIP	20371350
MIRT568976	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT568975	hsa-miR-4492	PAR-CLIP	20371350
MIRT568974	hsa-miR-4498	PAR-CLIP	20371350
MIRT568972	hsa-miR-5001-5p	PAR-CLIP	20371350
MIRT568973	hsa-miR-762	PAR-CLIP	20371350
MIRT568971	hsa-miR-3175	PAR-CLIP	20371350
MIRT568970	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT568969	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT568968	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568967	hsa-miR-4489	PAR-CLIP	20371350
MIRT568966	hsa-miR-4283	PAR-CLIP	20371350
MIRT568965	hsa-miR-185-3p	PAR-CLIP	20371350
MIRT568964	hsa-miR-4425	PAR-CLIP	20371350
MIRT568963	hsa-miR-3147	PAR-CLIP	20371350
MIRT568962	hsa-miR-2110	PAR-CLIP	20371350
MIRT568961	hsa-miR-6810-5p	PAR-CLIP	20371350
MIRT568960	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT568959	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT568958	hsa-miR-6857-5p	PAR-CLIP	20371350
MIRT568957	hsa-miR-450a-2-3p	PAR-CLIP	20371350
MIRT568956	hsa-miR-6778-5p	PAR-CLIP	20371350
MIRT568955	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT444938	hsa-miR-3938	PAR-CLIP	22100165
MIRT444936	hsa-miR-4780	PAR-CLIP	22100165
MIRT444937	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT444935	hsa-miR-623	PAR-CLIP	22100165
MIRT444934	hsa-miR-204-5p	PAR-CLIP	22100165
MIRT444933	hsa-miR-211-5p	PAR-CLIP	22100165
MIRT444932	hsa-miR-4755-5p	PAR-CLIP	22100165
MIRT444931	hsa-miR-5006-3p	PAR-CLIP	22100165
MIRT857479	hsa-miR-1197	CLIP-seq
MIRT857480	hsa-miR-1252	CLIP-seq
MIRT857481	hsa-miR-29a	CLIP-seq
MIRT857482	hsa-miR-29b	CLIP-seq
MIRT857483	hsa-miR-29c	CLIP-seq
MIRT857484	hsa-miR-3065-3p	CLIP-seq
MIRT857485	hsa-miR-3153	CLIP-seq
MIRT857486	hsa-miR-3165	CLIP-seq
MIRT857487	hsa-miR-3183	CLIP-seq
MIRT857488	hsa-miR-3190	CLIP-seq
MIRT857489	hsa-miR-3202	CLIP-seq
MIRT857490	hsa-miR-3915	CLIP-seq
MIRT857491	hsa-miR-3928	CLIP-seq
MIRT857492	hsa-miR-4299	CLIP-seq
MIRT857493	hsa-miR-4312	CLIP-seq
MIRT857494	hsa-miR-4317	CLIP-seq
MIRT857495	hsa-miR-4326	CLIP-seq
MIRT857496	hsa-miR-4434	CLIP-seq
MIRT857497	hsa-miR-4476	CLIP-seq
MIRT857498	hsa-miR-4516	CLIP-seq
MIRT857499	hsa-miR-4531	CLIP-seq
MIRT857500	hsa-miR-4533	CLIP-seq
MIRT857501	hsa-miR-4534	CLIP-seq
MIRT857502	hsa-miR-4641	CLIP-seq
MIRT857503	hsa-miR-4652-3p	CLIP-seq
MIRT857504	hsa-miR-4712-3p	CLIP-seq
MIRT857505	hsa-miR-4723-3p	CLIP-seq
MIRT857506	hsa-miR-4747-5p	CLIP-seq
MIRT857507	hsa-miR-4765	CLIP-seq
MIRT857508	hsa-miR-508-5p	CLIP-seq
MIRT857509	hsa-miR-550a	CLIP-seq
MIRT857510	hsa-miR-619	CLIP-seq
MIRT857511	hsa-miR-1827	CLIP-seq
MIRT857512	hsa-miR-3189-5p	CLIP-seq
MIRT857513	hsa-miR-4268	CLIP-seq
MIRT857514	hsa-miR-4467	CLIP-seq
MIRT857515	hsa-miR-4469	CLIP-seq
MIRT857516	hsa-miR-4655-3p	CLIP-seq
MIRT857517	hsa-miR-4660	CLIP-seq
MIRT857518	hsa-miR-4736	CLIP-seq
MIRT857519	hsa-miR-4758-3p	CLIP-seq
MIRT857520	hsa-miR-4778-3p	CLIP-seq
MIRT857521	hsa-miR-4793-5p	CLIP-seq
MIRT857522	hsa-miR-940	CLIP-seq
MIRT857523	hsa-miR-1228	CLIP-seq
MIRT857524	hsa-miR-1286	CLIP-seq
MIRT857525	hsa-miR-28-5p	CLIP-seq
MIRT857526	hsa-miR-3125	CLIP-seq
MIRT857527	hsa-miR-3126-3p	CLIP-seq
MIRT857528	hsa-miR-3139	CLIP-seq
MIRT857485	hsa-miR-3153	CLIP-seq
MIRT857486	hsa-miR-3165	CLIP-seq
MIRT857488	hsa-miR-3190	CLIP-seq
MIRT857489	hsa-miR-3202	CLIP-seq
MIRT857529	hsa-miR-34a	CLIP-seq
MIRT857530	hsa-miR-34c-5p	CLIP-seq
MIRT857531	hsa-miR-3616-3p	CLIP-seq
MIRT857532	hsa-miR-377	CLIP-seq
MIRT857533	hsa-miR-3916	CLIP-seq
MIRT857534	hsa-miR-4271	CLIP-seq
MIRT857535	hsa-miR-4419a	CLIP-seq
MIRT857536	hsa-miR-4436a	CLIP-seq
MIRT857537	hsa-miR-4436b-3p	CLIP-seq
MIRT857538	hsa-miR-448	CLIP-seq
MIRT857539	hsa-miR-449a	CLIP-seq
MIRT857540	hsa-miR-449b	CLIP-seq
MIRT857541	hsa-miR-4510	CLIP-seq
MIRT857500	hsa-miR-4533	CLIP-seq
MIRT857542	hsa-miR-4667-5p	CLIP-seq
MIRT857543	hsa-miR-4700-5p	CLIP-seq
MIRT857544	hsa-miR-4725-3p	CLIP-seq
MIRT857545	hsa-miR-4728-5p	CLIP-seq
MIRT857546	hsa-miR-4733-3p	CLIP-seq
MIRT857506	hsa-miR-4747-5p	CLIP-seq
MIRT857547	hsa-miR-4789-5p	CLIP-seq
MIRT857548	hsa-miR-4795-5p	CLIP-seq
MIRT857549	hsa-miR-516b	CLIP-seq
MIRT857550	hsa-miR-602	CLIP-seq
MIRT857551	hsa-miR-708	CLIP-seq
MIRT857552	hsa-miR-877	CLIP-seq
MIRT857553	hsa-miR-939	CLIP-seq
MIRT857511	hsa-miR-1827	CLIP-seq
MIRT1954673	hsa-miR-3646	CLIP-seq
MIRT1954674	hsa-miR-3679-3p	CLIP-seq
MIRT1954675	hsa-miR-4649-3p	CLIP-seq
MIRT1954676	hsa-miR-4659a-3p	CLIP-seq
MIRT1954677	hsa-miR-4659b-3p	CLIP-seq
MIRT857508	hsa-miR-508-5p	CLIP-seq
MIRT1954678	hsa-miR-544b	CLIP-seq
MIRT857522	hsa-miR-940	CLIP-seq
MIRT857511	hsa-miR-1827	CLIP-seq
MIRT2192271	hsa-miR-3942-3p	CLIP-seq
MIRT857520	hsa-miR-4778-3p	CLIP-seq
MIRT2436020	hsa-miR-1297	CLIP-seq
MIRT2436021	hsa-miR-26a	CLIP-seq
MIRT2436022	hsa-miR-26b	CLIP-seq
MIRT2436023	hsa-miR-3140-5p	CLIP-seq
MIRT2436024	hsa-miR-3661	CLIP-seq
MIRT2436025	hsa-miR-421	CLIP-seq
MIRT2436026	hsa-miR-4452	CLIP-seq
MIRT2436027	hsa-miR-4465	CLIP-seq
MIRT1954676	hsa-miR-4659a-3p	CLIP-seq
MIRT1954677	hsa-miR-4659b-3p	CLIP-seq
MIRT2436028	hsa-miR-4680-3p	CLIP-seq
MIRT2436029	hsa-miR-4709-5p	CLIP-seq
MIRT2436030	hsa-miR-4738-3p	CLIP-seq
MIRT2436031	hsa-miR-494	CLIP-seq
MIRT2436032	hsa-miR-631	CLIP-seq

Show/Hide all(72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002520	Process	Immune system development	IMP	15454078
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	7737988, 8392192, 9013606, 9087614, 9607315, 11741969, 12130699, 12176756, 16299511, 17071743, 28119464, 29078335
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	8099908, 15863612, 20953164, 24728418, 25260352, 27218670, 31430211
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11438518, 15140941, 18535142, 21134641, 21653829, 37207277
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IPI	15140941
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	11206130
GO:0005886	Component	Plasma membrane	IDA	11206130
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	12130699, 17224476
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005929	Component	Cilium	IDA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	12130699
GO:0007507	Process	Heart development	IMP	15454078
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	15454078
GO:0008331	Function	High voltage-gated calcium channel activity	TAS	11576544
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	11576544
GO:0014069	Component	Postsynaptic density	IDA	14140941
GO:0016020	Component	Membrane	IDA	8392192
GO:0016020	Component	Membrane	IEA
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	15454078
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IMP	15454078
GO:0043204	Component	Perikaryon	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045762	Process	Positive regulation of adenylate cyclase activity	ISS
GO:0045933	Process	Positive regulation of muscle contraction	NAS	34072954
GO:0046872	Function	Metal ion binding	IEA
GO:0051393	Function	Alpha-actinin binding	IPI	17110593
GO:0055085	Process	Transmembrane transport	IEA
GO:0060402	Process	Calcium ion transport into cytosol	ISS
GO:0060402	Process	Calcium ion transport into cytosol	TAS	19095005
GO:0061337	Process	Cardiac conduction	IMP	24728418
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	IDA	15454078
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	IMP	30023270, 30172029, 30513141, 34163037
GO:0070588	Process	Calcium ion transmembrane transport	IDA	15454078
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IMP	24728418
GO:0070588	Process	Calcium ion transmembrane transport	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	15454078
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP	17224476
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP	15454078
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IMP	15454078
GO:0086045	Process	Membrane depolarization during AV node cell action potential	IMP	26253506
GO:0086056	Function	Voltage-gated calcium channel activity involved in AV node cell action potential	IMP	26253506
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	11576544
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	15454078, 15863612, 17224476, 26253506
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	15454078, 26253506
GO:0098912	Process	Membrane depolarization during atrial cardiac muscle cell action potential	IMP	17224476
GO:1990454	Component	L-type voltage-gated calcium channel complex	IDA	15454078
GO:1990454	Component	L-type voltage-gated calcium channel complex	ISS

MIM	HGNC	e!Ensembl
114205	1390	ENSG00000151067

Protein

UniProt ID

Q13936

Protein name

Voltage-dependent L-type calcium channel subunit alpha-1C (Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle) (Voltage-gated calcium channel subunit alpha Cav1.2)

Protein function

Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:12181424, PubMed:15454078, PubMed:15863612, PubMed:16299511, PubMed:17224476, PubMed:20953164, PubMed:23677916, PubMed:2472841

PDB

1T0J , 2BE6 , 2F3Y , 2F3Z , 2LQC , 3G43 , 3OXQ , 5V2P , 5V2Q , 6C0A , 6DAD , 6DAE , 6DAF , 6U39 , 6U3A , 6U3B , 6U3D , 7L8V , 8EOG , 8EOI , 8FD7 , 8FHS , 8HLP , 8HMA , 8HMB , 8UKO , 8UKP , 8WE6 , 8WE7 , 8WE8 , 8WE9 , 8WEA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	123 → 416	Ion transport protein	Family
PF00520	Ion_trans	523 → 764	Ion transport protein	Family
PF00520	Ion_trans	899 → 955	Ion transport protein	Family
PF00520	Ion_trans	951 → 1197	Ion transport protein	Family
PF00520	Ion_trans	1238 → 1324	Ion transport protein	Family
PF00520	Ion_trans	1320 → 1535	Ion transport protein	Family
PF16905	GPHH	1544 → 1597	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1607 → 1681	Voltage gated calcium channel IQ domain	Domain
PF16885	CAC1F_C	1701 → 1819	Voltage-gated calcium channel subunit alpha, C-term	Family
PF16885	CAC1F_C	2080 → 2190	Voltage-gated calcium channel subunit alpha, C-term	Family

Tissue specificity

TISSUE SPECIFICITY: Detected throughout the brain, including hippocampus, cerebellum and amygdala, throughout the heart and vascular system, including ductus arteriosus, in urinary bladder, and in retina and sclera in the eye (PubMed:15454078). Expressed

Sequence

MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAAR
QAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISI
VEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIA
YGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALGGKGAGFDVKALRAFR
VLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCI
TMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVA
GGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT
IASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFL
FIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYG
GPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEEEEKERKKLAR
TASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVF
TSIFTLEIILKMTAYGAFLHKGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVL
RVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIVIVTTLLQFMFACIGVQLFKGKLYTCSD
SSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDNVLAAMMALFTVSTFEGWPEL
LYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNC
ELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQH
YGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVIL
SETNHYFCDAWNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFR
VMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTE
INRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNSTEGETPCGSSFA
VFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWAEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATLFALVRTALRI
KTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFK
KRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASE
DDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDST
FTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLS
SNRERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPSRCHSRESQAAMAGQEETSQDETY
EVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEEDKRDIRQSPKRGFLRSASLGRRA
SFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRSHSPASFPRPFATPPA
TPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM
VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESA
ADNILSGGAPQSPNGALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSS
L

Sequence length

2221

Interactions

View interactions

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Brugada Syndrome	brugada syndrome 3, brugada syndrome	rs121912776	N/A
cardiac arrhythmia	Cardiac arrhythmia	rs1057517711	N/A
Congenital Long QT Syndrome	congenital long qt syndrome	rs79891110, rs80315385	N/A
Long QT Syndrome	Long qt syndrome 8, long qt syndrome	rs587782933, rs1057517711, rs786205745, rs79891110, rs786205748, rs786205771, rs80315385, rs786205753, rs750835733, rs1568469857, rs1569139160	N/A
Timothy Syndrome	timothy syndrome	rs1555672574, rs79891110, rs786205745, rs80315385, rs1057517711, rs786205748, rs1467561684, rs794727587, rs797044881	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 1	rs1057517711	N/A
Ventricular Fibrillation	Ventricular fibrillation, paroxysmal familial, type 1	rs587782933	N/A

Show/Hide Unknown Diseases (18)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amyloidosis	amyloidosis	N/A	N/A	ClinVar
Anxiety Disorder	Anxiety	N/A	N/A	GWAS
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
autism spectrum disorder	Autism spectrum disorder	N/A	N/A	ClinVar
Bipolar Disorder	Bipolar disorder, Bipolar I disorder	N/A	N/A	GWAS
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia	catecholaminergic polymorphic ventricular tachycardia	N/A	N/A	ClinVar
Cerebral palsy	cerebral palsy	N/A	N/A	ClinVar
Congestive Heart Failure	congestive heart failure	N/A	N/A	ClinVar
Gout	Gout	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	GenCC
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Short QT Syndrome	short QT syndrome, short qt syndrome	N/A	N/A	GenCC, ClinVar
ventricular tachycardia	Ventricular tachycardia	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (134)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	34563241
Adenocarcinoma of Lung	Associate	28083984
Affective Disorders Psychotic	Associate	25290268, 38012695
Alcoholism	Associate	37306960
Alzheimer Disease	Associate	26827652
Anhedonia	Associate	25290268
Aortic Valve Disease	Associate	37234568
Arrhythmias Cardiac	Associate	25184293, 27502440, 27529678, 27707468, 30279520, 30345660, 30348784, 32012279, 36273583
Ataxia	Associate	31291898, 34163037
Atrial Fibrillation	Inhibit	26319023
Atrial Fibrillation	Associate	27341015, 27857207, 29568937, 31539150, 33797204, 34100729, 37597360
Atrioventricular Block	Associate	28427417, 37227349
Auditory Perceptual Disorders	Associate	25290268
Autism Spectrum Disorder	Associate	24752249, 26204268, 30392976, 31887354, 32393163, 33076578, 33203140, 35205252, 35220405, 35897673, 36167061
Autistic Disorder	Associate	16754686, 26204268, 27897003, 28846756, 33203140, 34163037
Behcet Syndrome	Associate	36193501
Bipolar Disorder	Associate	18317468, 18711365, 19329560, 19621016, 19819557, 20819988, 21057379, 21926972, 22012475, 22085483, 23070075, 23404764, 23437284, 23437964, 23979604 View all (29 more)
Borderline Personality Disorder	Associate	25304227
Breast Neoplasms	Associate	32734521
Brugada Syndrome	Associate	23575362, 27707468, 30513141
Carcinoma Hepatocellular	Associate	19861515
Carcinoma Squamous Cell	Associate	36099101
Cardiomyopathies	Associate	30513141, 31430211
Cardiomyopathy Dilated	Associate	24339868, 29071820
Cardiomyopathy Hypertrophic	Associate	24183960, 26253506, 28427417, 33797204
Cataract	Associate	27124316
Cerebellar Ataxia	Associate	31291898
Channelopathies	Associate	18836301, 30345660, 33203140, 35543671
Cognitive Dysfunction	Associate	37107586
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	26204268, 40133997
Congenital Hyperinsulinism	Associate	35897673
Coronary Disease	Associate	37679988
COVID 19	Associate	34204705
Death	Associate	34930847
Death Sudden	Associate	27390944, 30345660, 34930847
Death Sudden Cardiac	Associate	23678275, 26253506, 31430211, 33797204, 37122210
Dementia Multi Infarct	Associate	33797204
Depressive Disorder	Associate	26401721, 28765577, 33421489, 38012695
Depressive Disorder Major	Associate	19621016, 25403839, 28765577
Developmental Defects of Enamel	Associate	33203140
Developmental Disabilities	Associate	25184293, 27390944, 34163037, 40133997
Disease	Associate	30100087, 33818783, 34990580
Drug Resistant Epilepsy	Associate	40133997
Epilepsy	Associate	30513141, 33818783, 34163037
Essential Hypertension	Associate	27529678, 33663102
Eye Neoplasms	Associate	32393163
Facial Dysmorphism with Multiple Malformations	Associate	27390944, 30067485
Fetal Alcohol Spectrum Disorders	Associate	34163037
Fetal Diseases	Associate	30992551
Genetic Diseases Inborn	Associate	24752249, 33797204
Glaucoma 1 Open Angle J	Associate	37122210
Glioma	Associate	36810326
Hearing Loss Functional	Associate	34930847
Heart Arrest	Associate	30279520, 30345660
Heart Defects Congenital	Associate	26253506, 30067485, 33797204
Heart Diseases	Associate	26253506, 36167061, 40133997
Heart hand syndrome Spanish type	Associate	30513141
Heart Septal Defects Atrial	Associate	29258620
Heredodegenerative Disorders Nervous System	Associate	32233732
Hidradenitis Suppurativa	Associate	39940809
Hypertension	Associate	19225208, 27418245, 32111194, 33663102
Hypertrophy	Associate	28427417
Hypoglycemia	Associate	35897673
hypoglycemic encephalopathy	Associate	35897673
Hypotension	Associate	27349457
Hypothalamic hamartomas	Associate	18076645
Hypoxia	Associate	33351148
Immune System Diseases	Associate	33797204
Infant Newborn Diseases	Associate	30513141
Infertility Male	Associate	34204705, 34604380
Insulin Resistance	Associate	34745571
Intellectual Disability	Associate	28846756, 34163037
Intestinal Neoplasms	Associate	34563241
Language Disorders	Associate	34163037
Learning Disabilities	Associate	30513141
Lennox Gastaut Syndrome	Associate	28846756
Leukoencephalopathies	Associate	27790829
Limbic Encephalitis	Associate	26401721
Long QT Syndrome	Associate	19029296, 20809527, 21658281, 23677916, 23678275, 23979604, 25184293, 26253506, 27390944, 29071820, 29258620, 29691127, 30067485, 30345660, 30348784 View all (12 more)
Major Affective Disorder 2	Associate	29501388
Malocclusion Angle Class I	Associate	33203140
Marfan Syndrome	Associate	36972239
Memory Disorders	Associate	22012475
Mental Disorders	Associate	20819988, 23453885, 24752249, 25403839, 26401721, 26611642, 27276213, 28792954, 29362489, 30100087, 30755265, 30909026, 31695164, 31829002, 33797204 View all (4 more)
Migraine Disorders	Associate	19819557, 32233732
Migraine with Aura	Associate	19819557
Mood Disorders	Associate	24944871, 30755265, 30909026, 33203140
Multiple Chronic Conditions	Associate	35590255
Multiple System Atrophy	Associate	36167061
Muscle Hypotonia	Associate	34163037, 40133997
Narcolepsy	Associate	34745571
Neoplasms	Associate	19861515, 24916694, 28083984, 34210324
Neoplasms Connective Tissue	Associate	31176952
Neuralgia	Associate	37489644
Neurologic Disease Infantile Multisystem with Osseous Fragility	Associate	30067485
Neurologic Manifestations	Associate	30067485, 32233732, 40133997
Oculocerebrorenal Syndrome	Associate	32393163
Osteoarthritis	Associate	37047701
Ovarian Neoplasms	Associate	34210324
Paralyses Familial Periodic	Associate	29769724
Parkinson Disease	Stimulate	25173401
Parkinson Disease	Associate	34745571, 37306960
Paroxysmal ventricular fibrillation	Associate	23575362
Pathological Conditions Anatomical	Associate	33818783
Pediatric acute onset neuropsychiatric syndrome	Associate	24944871
Peripheral Nervous System Diseases	Associate	29581247
Phantom Limb	Associate	37489644
Post Acute COVID 19 Syndrome	Associate	28792954, 29071820
Pressure Ulcer	Associate	27418245
Psychotic Disorders	Associate	27790829, 30079586, 33203140
Respiratory System Abnormalities	Associate	40133997
Rhabdomyolysis	Associate	25184293
Romano Ward Syndrome	Associate	21658281, 31004778, 31307750, 35862440, 36272554
Schizophrenia	Associate	19621016, 20819988, 21057379, 21926972, 21926974, 22012475, 22614287, 22883350, 23404764, 23437284, 23453885, 24461634, 25290268, 25403839, 25453756 View all (17 more)
Seizures	Associate	25184293, 32233732, 36347939
Short QT Syndrome 1	Associate	28427417, 33203140
Sick Sinus Syndrome	Associate	29568937, 33797204
Sleep Wake Disorders	Associate	28792954
Speech Disorders	Associate	30079586
Stress Disorders Post Traumatic	Associate	29362489
Substance Related Disorders	Associate	37306960
Sudden Infant Death	Associate	25184293
Sudden Unexpected Death in Epilepsy	Associate	35543671
Syncope	Associate	23575362, 30345660
Syndactyly	Associate	27390944, 30067485, 33797204, 36347939
Syndrome	Associate	28846756, 30992551
Tachycardia Ventricular	Associate	27502440
Takotsubo Cardiomyopathy	Associate	28818208
Thakker Donnai syndrome	Associate	33797204
Timothy syndrome	Associate	16754686, 18250309, 22106044, 23677916, 23678275, 23979604, 24752249, 24773605, 25184293, 25260352, 26204268, 26253506, 27390944, 27502440, 28315637 View all (12 more)
Tooth Loss	Associate	26343379
Torsades de Pointes	Associate	29258620
Ventricular Fibrillation	Associate	23575362, 29258620, 30279520, 30345660
Wounds and Injuries	Associate	29362489

CACNA1C (calcium voltage-gated channel subunit alpha1 C)